We report a unique mutation in the renin receptor gene (ATP6AP2) present in patients with X-linked mental retardation and epilepsy (OMIM no. 300423), but absent in 1200 control X-chromosomes. [scholars.opb.msu.edu]

Discussion In this study, we present eight new patients from five families with X-linked ID type Nascimento. [link.springer.com]

Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed: 24607389 }. [web.expasy.org]

• Disability

  disability, Pai type 1 Family 85285 X-linked intellectual disability, Schimke type 4 Cases 85323 X-linked intellectual disability, Seemanova type 4 Cases 85286 X-linked intellectual disability, Shashi type 9 Cases 85324 X-linked intellectual disability [azkurs.org]

  X-linked intellectual disability (Medical Condition) Symptoms, risk factors and treatments of X-linked intellectual disability (Medical Condition) X-linked intellectual disability refers to forms of intellectual disability ... [wikinow.co]

  disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability, Najm type X-linked intellectual disability, Nascimento type X-linked intellectual disability, Pai type X-linked intellectual disability, [se-atlas.de]

  disability QQ, X-linked intellectual disability LINE, X-linked intellectual disability WeChat, X-linked intellectual disability Tumblr, X-linked intellectual disability Flickr, X-linked intellectual disability Vimeo, X-linked intellectual disability [maria-online.com]

• Nausea

  The mother suffered from nausea and vomiting during the whole pregnancy and had a seasonal flu in the second trimester. The patient was the second twin and was born at term by vaginal dystocic delivery. [link.springer.com]

• Vomiting

  The mother suffered from nausea and vomiting during the whole pregnancy and had a seasonal flu in the second trimester. The patient was the second twin and was born at term by vaginal dystocic delivery. [link.springer.com]

• Arthritis

  […] disease Stalker Chitayat syndrome DPM1-CDG (CDG-Ie) Retinopathy pigmentary mental retardation Hawkinsinuria Deafness onychodystrophy osteodystrophy and mental retardation syndrome Dyskeratosis congenita autosomal recessive Sneddon syndrome Pyogenic arthritis [checkrare.com]

• Piebaldism

  […] hygroma Popliteal pterygium syndrome, Bartsocas-Papas type PACS1-related syndrome Ichthyosis, mental retardation, dwarfism and renal impairment Radial ray agenesis Spinal atrophy ophthalmoplegia pyramidal syndrome Metaphyseal chondrodysplasia Spahr type Piebaldism [checkrare.com]

• Hearing Impairment

  impairment 60 Frequent (79-30%) 5 microcephaly 60 Very frequent (99-80%) 6 short stature 60 Very frequent (99-80%) 7 cleft palate 60 Occasional (29-5%) 8 protruding ear 60 Occasional (29-5%) 9 prominent nasal bridge 60 Occasional (29-5%) 10 non-midline [malacards.org]

  He has no hearing impairment and has not exhibited seizures, regression or autistic behaviour. [link.springer.com]

  […] anomalies syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Hypotrichosis-intellectual disability, Lopes type Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency [se-atlas.de]

X-linked intellectual disability (Medical Condition) Symptoms, risk factors and treatments of X-linked intellectual disability (Medical Condition) X-linked intellectual disability refers to forms of intellectual disability ... [wikinow.co]

"We hope that by learning more about genes such as USP9X, we will create new opportunities to understand brain disorders at a much deeper level than currently known, which could lead to future treatment opportunities." [sciencedaily.com]

They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care. [web.expasy.org]

Most importantly for the patients, some of the gene discoveries have pointed to potential strategies for treatment. [factpub.org]

Moog U (2005) The outcome of diagnostic studies on the etiology of mental retardation: considerations on the classification of the causes. American Journal of Medical Genetics Part A 137: 228–231. [els.net]

[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]

Further Reading Chelly J, Khelfaoui M, Francis F, Cherif B and Bienvenu T (2006) Genetics and pathophysiology of mental retardation. European Journal of Human Genetics 14: 701–713. [els.net]

Genetics and pathophysiology of mental retardation. European Journal of Human Genetics, 14 (6), 701–713. PubMed CrossRef Gitiaux, C., Bergounioux, J., Magen, M., Quijano-Roy, S., Blanc, T., Bonnefont, J. P., et al. (2013). [springermedizin.de]

Genetics and pathophysiology of mental retarda-tion. Eur. J. Hum. Genet. 14, 701713.19. Ropers, H.H., and Hamel, B.C. (2005). X-linked mentalretardation. Nat. Rev. Genet. 6, 4657.20. Kleefstra, T., and Hamel, B.C. (2006). [documents.tips]

At the same time, it has improvedthe clinical diagnosis of XLID and allowed for carrier detectionand prevention strategies through gamete donation, prenataldiagnosis, and genetic counseling. [documents.tips]